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GlyCosmos Diseases

List of diseases involving glycan related genes. The information of each database of Glyco-Disease Genes Database (GDGDB) and Alliance of Genome Resources is integrated into one list.

Source	Last Updated
Alliance of Genome Resources	July 29, 2024
Glyco-Disease Genes Database (GDGDB)	January 25, 2017

Displaying entries **4301 - 4325** of **7942** in total

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Disease ID	Disease Name	Gene Symbol	Gene ID	Organism ▼
DOID:10486	intestinal atresia	SLC2A2 SLC2A5 SLC5A1	6514 6518 6523	Homo sapiens (human)
DOID:0111377	fetal akinesia deformation sequence syndrome 1 Aliases: FADS1	AGRN CNTN1 DPAGT1 GBA1 GBE1 PDHA1 PIGS	1272 1798 2629 2632 375790 5160 94005	Homo sapiens (human)
DOID:9744	type 1 diabetes mellitus Aliases: IDDM insulin-dependent diabetes mellitus type I diabetes mellitus	ABO ACAN ACE ACHE ACOT7 ACSL1 ADH5 ADIPOQ AGA AGPAT1 AKR1A1 AKR1B1 ALDH2 ALDH3A2 ALOX12 ALOX15B ALOX5 AMY2A ANXA5 APRT B3GAT1 B4GALNT1 B4GALT1 BAAT CAT CBR1 CD14 CD1D CD209 CD38 CD44 CD48 CD74 CDH13 CEACAM5 CEL CEPT1 CHAT CHI3L1 CHST3 CLEC16A CSGALNACT1 CYP21A2 CYP24A1 CYP27A1 CYP27B1 CYP2E1 CYP2R1 CYP7A1 DCN DDOST DGCR2 DHCR7 DLAT EFNA1 ENO2 ENPP1 FADS2 FASN FCER2 FCGR3B FCN2 FKRP FUCA1 FUT2 G6PC1 G6PC2 G6PD GAD1 GAD2 GAL3ST1 GALNT3 GBA3 GCK GLA GLB1 GLO1 GLUL GPI GPX1 GPX3 GYS1 HK1 HK2 HMGCS2 HPGDS HPRT1 HPSE2 HPSE HSD11B1 HSD11B2 HSD17B4 HSPG2 ICAM1 IGF2 IGF2R IL18R1 IL18RAP IL1R1 IL1RL1 INPP5D INPPL1 INS IPPK ISYNA1 KL KLRC3 KLRD1 LDHC LGALS1 LGALS3 LIPC LPL LY6G6D LYPD5 MASP2 MBL2 MGAT1 MGAT5 MICA MIOX NAAA NAMPT NCAM1 OGA PARP1 PDHX PDX1 PFKFB3 PGM1 PGP PIK3CA PIK3CB PIK3CD PIK3CG PIP4K2C PLA2G6 PLA2G7 PNPLA3 PRKAA2 PRKCSH PTEN PTGS2 REG1B RENBP SCD SDC2 SELE SELL SELP SIRT2 SIRT6 SLC2A12 SLC2A2 SLC2A3 SLC2A4 SLC2A8 SLC35A1 SLC35G1 SLC37A4 SLC5A1 SOAT1 ST3GAL4 SULT1E1 TKT TLR2 TLR4 TM7SF2 TNF UGT1A1 UMOD VCAM1 VCAN VTCN1 XYLT1 XYLT2	100507436 1012 10135 10327 10390 1048 10554 10559 1056 10724 10747 10855 1103 1116 11332 120227 128 142 1462 154091 1571 1581 1589 1591 1593 159371 1594 1634 1636 1650 1717 1737 175 176 1942 2026 217 2180 2194 2208 2215 2220 224 22933 231 23274 239 240 247 2517 2524 2538 2539 2542 2571 2572 2583 2591 2645 2683 27087 27163 2717 2720 27306 2739 2752 279 28 2821 283871 284348 2876 2878 2997 29988 308 30835 3098 3099 3158 3251 3290 3291 3295 3339 3383 3481 3482 353 3554 3630 3635 3636 3651 3823 3824 3948 3956 3958 3990 4023 4153 4245 4249 43 4684 51477 51548 5167 5209 5236 5290 5291 5293 5294 54658 55586 5563 55790 5589 570 5728 5743 57733 57818 58530 5968 5973 60495 6319 6383 6401 6402 6403 64131 64132 64768 6484 6514 6515 6517 6523 6646 6783 7086 7097 7099 7108 7124 7369 7412 79147 7941 79679 79837 80339 8050 8398 847 873 8807 8809 912 9173 929 9365 9370 9415 9469 9514 952 960 962 972 9993	Homo sapiens (human)
DOID:0050597	intestinal schistosomiasis Aliases: Katayama fever Schistosoma japonicum infection Schistosoma mansoni infectious disease schistosomiasis japonica	ABO CD38 CD44 COLEC11 FCER2 FCN2 GAPDH HPGDS ICAM1 IL1RL1 LGALS3 LYPD5 MBL2 MICA PC	100507436 2208 2220 2597 27306 28 284348 3383 3958 4153 5091 78989 9173 952 960	Homo sapiens (human)
DOID:0110960	Gaucher's disease perinatal lethal Aliases: Fetal Gaucher Disease Gaucher Disease, Collodion Type	GBA1	2629	Homo sapiens (human)
DOID:0081002	Cowden syndrome 6	AKT1	207	Homo sapiens (human)
DOID:0110900	inflammatory bowel disease 2 Aliases: IBD2	GALM	130589	Homo sapiens (human)
DOID:12265	chronic salpingo-oophoritis Aliases: chronic salpingitis and oophoritis chronic salpingitis/oophoritis	MSLN	10232	Homo sapiens (human)
DOID:11840	coronary artery vasospasm Aliases: Coronary Vasospasm Coronary artery spasm	ACE ALDH2 PLA2G7 PLCD1	1636 217 5333 7941	Homo sapiens (human)
DOID:0060670	cerebral cavernous malformation 2	SMUG1	23583	Homo sapiens (human)
DOID:12716	newborn respiratory distress syndrome Aliases: HMD - Hyaline membrane disease Neonatal respiratory Distress syndrome hyaline membrane disease pulmonary hyaline membrane disease pulmonary hypoperfusion syndrome of newborn respiratory distress syndrome of newborn	ABO ACAA2 ACACA ACE ACO2 AKR1B10 AKR1B1 ALDH7A1 ARSD CAT CD14 CD44 CEL CLEC1B CYP1A1 CYP1A2 CYP1B1 CYP3A5 CYP3A7 DCN DPM2 EPHX2 GAD1 HADHA HPGDS HSD11B2 ICAM1 IL1R1 KL LCT LGALS3 LPCAT1 MBL2 MDH1 MTM1 NAAA NAMPT NDST1 NT5E PAFAH1B1 PARP9 PCYT1B PIK3CA PIK3CB PIK3CD PIK3CG PLA2G10 PLA2G1B PLA2G2A PLA2G4A PLA2G6 PLA2G7 PLAUR PLB1 PLD1 PTGS2 RENBP SFTPA1 SFTPA2 SFTPC SFTPD SLC27A5 SLC2A10 SMPD1 SMUG1 SRGN TM7SF2 TPI1 UGT1A1 UGT8	10135 10449 1056 10998 151056 1543 1544 1545 1551 1577 1634 1636 2053 231 23583 2571 27163 27306 28 3030 31 3291 3340 3383 3554 3938 3958 414 4153 4190 4534 4907 50 501 5048 51266 5290 5291 5293 5294 5319 5320 5321 5329 5337 54658 5552 57016 5743 5973 6440 6441 653509 6609 7108 7167 729238 7368 7941 79888 81031 83666 8398 8399 847 8818 929 9365 9468 960	Homo sapiens (human)
DOID:14110	anus cancer Aliases: anal cancer malignant anal tumor	CEACAM5 LIPA PIK3CA PIK3CB PIK3CD PIK3CG SMUG1	1048 23583 3988 5290 5291 5293 5294	Homo sapiens (human)
DOID:1495	cystic echinococcosis Aliases: Echinococcus granulosus infection Echinococcus granulosus infection of lung Echinococcus granulosus infection of thyroid Liver echinococcus granulosus Thyroid echinococcus granulosus echinococcus granulosus echinococcus granulosus infectious disease echinococcus granulosus infectious disease of liver echinococcus granulosus infectious disease of thyroid lung echinococcus granulosus unilocular echinococcosis unilocular hydatid disease	TLR2 TLR4	7097 7099	Homo sapiens (human)
DOID:12785	diabetic polyneuropathy Aliases: Diabetes mellitus with polyneuropathy Polyneuropathy in diabetes	ACE ACSL1 AKR1B1 CAT ENO2 GLO1 GPX1 PARP1 PMM2 PNPLA6 PTEN PTGS2 RENBP SMPD1 ST3GAL4 TKT	10908 142 1636 2026 2180 231 2739 2876 5373 5728 5743 5973 6484 6609 7086 847	Homo sapiens (human)
DOID:0090054	episodic kinesigenic dyskinesia 2	COMT	1312	Homo sapiens (human)
DOID:0081337	congenital myopathy	HACD1	9200	Homo sapiens (human)
DOID:0060316	orofaciodigital syndrome I Aliases: Papillon-Leage-Psaume syndrome orofaciodigital syndrome 1 orofaciodigital syndrome type I	AKR1C4 CNTN3 COG1 CYP2B6 DGCR2 FREM1 G6PD GAS1 GYS2 LSS NT5E SLC26A2	1109 1555 158326 1836 2539 2619 2998 4047 4907 5067 9382 9993	Homo sapiens (human)
DOID:1911	endodermal sinus tumor Aliases: Hepatoid yolk sac tumour Yolk Sac neoplasm Yolk sac tumour endodermal sinus tumour infantile embryonal carcinoma yolk sac tumor	GPC3 PTEN	2719 5728	Homo sapiens (human)
DOID:0080382	nephrotic syndrome type 3 Aliases: early onset nephrotic syndrome type 3	PLCE1	51196	Homo sapiens (human)
DOID:12156	arachnoiditis	APRT CAT CD248 CDS1 CHI3L1 ENOSF1 GALNS ICAM1 LYZ MBL2 NEU1 OGG1 PARP1 PRNP	1040 1116 142 2588 3383 353 4069 4153 4758 4968 55556 5621 57124 847	Homo sapiens (human)
DOID:13482	Proteus syndrome Aliases: Wiedemann's syndrome	AKT1 GPC3 PIK3CA PIK3CB PIK3CD PIK3CG PTEN SELE SELP	207 2719 5290 5291 5293 5294 5728 6401 6403	Homo sapiens (human)
DOID:0110515	autosomal recessive nonsyndromic deafness 63 Aliases: DFNB63 autosomal recessive deafness 63	ACO2 ACOX1 ARSA CD109 CHSY1 COG4 LRTOMT OTOA OTOG PSAP TECTA	135228 146183 220074 22856 25839 340990 410 50 51 5660 7007	Homo sapiens (human)
DOID:0060067	Pearson syndrome Aliases: Pearson Marrow-Pancreas Syndrome	ACADL ACADVL CHPT1 CPT1A CPT1B CPT2 LPIN1	1374 1375 1376 23175 33 37 56994	Homo sapiens (human)
DOID:635	acquired immunodeficiency syndrome Aliases: AIDS acquired Immune deficiency	ABO ACE ACOT8 ACSS2 ARSH B3GAT1 BST2 CACNA2D4 CD14 CD209 CD38 CDH13 CHI3L1 CLEC10A CLEC18B CLEC9A CNTN6 COLEC11 COMT CTSA CYP1A1 CYP21A2 CYP27B1 CYP2B6 CYP3A4 CYP4F3 CYP7B1 DEGS2 DGKI EFNA5 ENO1 FADS2 FCER2 FCGR3B FCN2 FREM1 FUCA1 FUT1 FUT2 G6PD GAD1 GALT GLB1 GLUL GPAT3 GPI GPX1 GPX3 HADHA HEXA HEXB HPGDS ICAM1 ICAM2 IDH1 IGF2 IGF2R KLRB1 KLRC1 KLRD1 LGALS1 LGALS9 LIPA LSS LTA4H LYZ MACROD2 MAN1A1 MBL2 MICA MLYCD MRC1 NEIL1 NTM OGG1 PARP1 PIK3C2A PIK3CA PLA2G15 PLA2G7 PLAUR PLCD3 PNPLA3 PRKAA2 PRNP PRSS21 PSAP PTEN PTGS1 PTGS2 RENBP SCD5 SDC1 SELE SELL SELP SFTPD SLC35F4 SMUG1 SOAT1 STS TMED1 TNF UGT1A1 UNG VCAM1	10005 100507436 1012 10462 10942 11018 1116 113026 123099 1312 140733 142 1543 1555 1576 158326 1589 1594 1636 1946 2023 2208 2215 2220 23417 23583 23659 2517 2523 2524 2539 2571 2592 27087 2720 27255 27306 2752 28 2821 283420 2876 2878 3030 3073 3074 30835 3383 3384 3417 341880 347527 3481 3482 3820 3821 3824 3956 3965 3988 4047 4048 4051 4069 412 4121 4153 4360 4968 497190 50863 5286 5290 5329 54658 5476 5563 55902 5621 5660 5728 5742 5743 5973 6382 6401 6402 6403 6441 6646 684 7124 7374 7412 78989 7941 79661 79966 80339 84803 9162 929 93589 9415 9420 952	Homo sapiens (human)
DOID:7763	carcinoma of supraglottis Aliases: Supraglottic carcinoma	PTEN	5728	Homo sapiens (human)

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